BIOL3204 TERM 1 EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS VERIFIED

BIOL3204 TERM 1 EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS VERIFIED Synonymous SNV base change does NOT result in amino acid change e.g. CGTCGC is still Arginine (R) Missense SNV base change does result in amino acid change e.g. CGTCAC changes Arginine (R) to Histidine (H) Nonsense SNV base change result in a premature stop codon Splice SNV Mutation is at the exon-intron border and might affect splicing (turn exon to intron and vis versa) Intronic SNV SNV occurs in gene introns Intergenic SNV SNV occurs in regions between genes 3'UTR SNV SNV occurs in 3' UTR (may affect transcription or translation) 5'UTR SNV SNV occurs in 5' UTR (may affect transcription or translation) Indel Generally refers to insertion or deletions up to 100bp. Can be up to 1Mb Microsatellites vs copy number varients add more copies to each alleles. Affect more than two. CNV make larger duplications What happens to translocations during Meiosis? Chromosome form cross like structures that align with complementary parts. The chromosomes will then split in different ways. Some will be more viable as they are more balanced as in they have one copy of each gene where some will not CNV and Human Disease There have been associations between regions with CNV and human disease. This may be due to gene dosage effects or changes in the expression of genes with the CNV region Nullisomy Aneuploidy loss of both members of a homologous pair of chromosomes; 2n − 2 Monosomy Aneuploidy loss of a single chromosome; 2n − 1 Trisomy Aneuploidy gain of a single chromosome; 2n + 1 Tetrasomy gain of two homologous chromosomes; 2n + 2 Uniparental disomy both chromosomes are inherited form the same parent. Partial aneuploidy Some of the chromosome is missing Gene An inherited factor (encoded in the DNA) that helps determine a characteristic Allele One of two or more alternative forms of a gene Locus Specific place on a chromosome occupied by an allele Genotype Set of alleles possessed by an individual organism Heterozygote An individual organism possessing two different alleles at a locus Homozygote An individual organism possessing two of the same alleles at a locus Phenotype or trait The appearance or manifestation of a characteristic Characteristic or character An attribute or feature possessed by an organism Penetrance proportion of people with a particular genetic variant (or gene mutation) who exhibit signs and symptoms of a genetic disorder epistatically two or more genes interact with eachother to create a more complex trait Compound heterozygous